Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HEBP1_chr12_12969870_13005265	12978199	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	396	0.0025	-13	c.399 others(30): Show c.399-2733_399-2721delAAAAAAAAAAAAA	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	3/3			chr12	TogoVar
HEBP1_chr12_12969870_13005265	13000288	TAGAGGCA others(6): Show TAGAGGCAGGGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01496.hp1 others(5): Show HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165	8	396	0.0202	-13	c.-18 others(22): Show c.-187_-175delGGCCCCTGCCTCT	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding		24		chr12	TogoVar
HECA_chr6_139130080_139185802	139159008	GGTTGCGG others(6): Show GGTTGCGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	314	0.0032	-13	c.272 others(30): Show c.272-7274_272-7262delTTGCGGTGAGCCG	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31118898	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	342	0.0029	-13	c.539 others(30): Show c.5395+799_5395+811delTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	29/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31187027	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0084 a0001c0002t0001g0085	2	342	0.0059	-13	c.141 others(30): Show c.141-8786_141-8774delTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD2_chr10_91405344_91519820	91497456	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG03453.hp2 HG02486.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0004g0013 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0004g0013	3	15	0.2000	-13	c.168 others(30): Show c.1681-638_1681-626delTTTTTTTTTTTTT	HECTD2	ENSG00000165338.17	transcript	ENST00000298068.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HECTD4_chr12_112155195_112387431	112290850	AAAAAAAA others(6): Show AAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03453.hp2 others(2): Show HG01891.hp1 HG02559.hp1 HG03453.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 others(2): Show a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078	5	270	0.0185	-13	c.133 others(32): Show c.1336-7561_1336-7549delGTTTTGTTTTTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	7/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43221537	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00738.hp2 others(19): Show HG00438.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG02015.hp1 HG02615.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03491.hp2 HG03704.hp1 HG06807.hp1 NA18906.hp1 NA18952.hp1 NA18968.hp1 NA18971.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0003c0008 a0004c0015 a0006c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0024 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0006t0001 a0001c0021t0029 a0003c0008t0001 a0004c0015t0001 a0006c0019t0005	a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0131 others(19): Show a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0160 a0001c0001t0003g0178 a0001c0001t0022g0067 a0001c0001t0024g0070 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0151 a0001c0002t0004g0040 a0001c0003t0001g0076 a0001c0003t0001g0140 a0001c0003t0001g0165 a0001c0003t0002g0018 a0001c0004t0002g0053 a0001c0006t0001g0109 a0001c0006t0001g0125 a0001c0021t0029g0093 a0003c0008t0001g0174 a0004c0015t0001g0176 a0006c0019t0005g0179	22	182	0.1209	-13	c.-31 others(32): Show c.-31-22308_-31-22296delTTTTTTTTTTTTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43485580	GCTGCAAA others(6): Show GCTGCAAACCTGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0042 a0001c0006t0033g0042	1	182	0.0055	-13	c.323 others(32): Show c.3234+5838_3234+5850delTGCAAACCTGTAC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43564598	ATGTCACG others(6): Show ATGTCACGGTCACC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18968.hp2 NA18971.hp1 NA18948.hp1 NA18968.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0012 a0001c0001t0024	a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0024g0070 a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0024g0070	3	182	0.0165	-13	c.26 others(24): Show c.2675_*2687delTCACGGTCACCTG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	30/30	2675	INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196358585	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG01891.hp1 others(7): Show HG01169.hp2 HG01496.hp2 HG01891.hp1 HG02895.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03834.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 others(4): Show a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0011 a0001c0003t0009 a0001c0003t0010 a0001c0014t0026	a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0001g0039 others(7): Show a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0001g0039 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0104 a0001c0002t0011g0046 a0001c0003t0009g0073 a0001c0003t0010g0025 a0001c0014t0026g0078	10	112	0.0893	-13	c.293 others(32): Show c.293-14834_293-14822delTTTTTTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HELLS_chr10_94540788_94607099	94544039	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03654.hp1 HG02976.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0204 a0001c0002t0001g0281 a0001c0001t0002g0204 a0001c0002t0001g0281	2	358	0.0056	-13	c.-18 others(24): Show c.-1882_-1870delTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		1748		chr10	TogoVar
HELLS_chr10_94540788_94607099	94561859	AATGTATG others(6): Show AATGTATGAATTTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02071.hp1 others(29): Show HG01884.hp1 HG01891.hp2 HG02071.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp2 NA18948.hp1 NA18950.hp1 NA18979.hp2 NA18993.hp1 NA19001.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19076.hp2 NA19089.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(26): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043	32	358	0.0894	-13	c.334 others(28): Show c.334-829_334-817delGTATGAATTTCAT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94575766	TGTGTTTG others(6): Show TGTGTTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0332 a0008c0005t0001g0332	1	358	0.0028	-13	c.889 others(28): Show c.889-895_889-883delGTGTTTGTGTGTG	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	9/21			chr10	TogoVar
HELLS_chr10_94540788_94607099	94578070	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	358	0.0028	-13	c.103 others(32): Show c.1032+1280_1032+1292delAAAAAAAAAAAAA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELT_chr4_185013490_185025953	185022278	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02129.hp2 HG03654.hp2 others(3): Show HG00597.hp1 HG02129.hp2 HG03654.hp2 NA18952.hp1 NA18970.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006	6	454	0.0132	-13	c.15 others(24): Show c.1507_*1519delAAAAAAAAAAAAA	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		1326		chr4	TogoVar
HELT_chr4_185013490_185025953	185023065	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	454	0.0022	-13	c.22 others(24): Show c.2294_*2306delTCTCTCTCTCTCT	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2113		chr4	TogoVar
HELT_chr4_185013490_185025953	185023066	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(54): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02970.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2 NA18947.hp2 NA18964.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18990.hp2 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19055.hp1 NA19058.hp2 NA19064.hp2 NA19077.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0005g0003	57	454	0.1256	-13	c.22 others(24): Show c.2295_*2307delCTCTCTCTCTCTC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2114		chr4	TogoVar
HELZ2_chr20_63553086_63579239	63555069	TCCACAGC others(6): Show TCCACAGCGAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18979.hp1 NA19066.hp1 NA18948.hp2 NA18979.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0312 a0002c0002t0011g0326 a0002c0002t0011g0333 a0002c0002t0011g0312 a0002c0002t0011g0326 a0002c0002t0011g0333	3	390	0.0077	-13	c.41 others(24): Show c.4164_*4176delGCCCTCGCTGTGG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding		3016		chr20	TogoVar
HELZ_chr17_67065444_67250196	67214259	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0010 a0001c0001t0045g0010	1	274	0.0037	-13	c.247 others(30): Show c.247+1627_247+1639delAAAAAAAAAAAAA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67235749	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0113 a0001c0003t0009g0113	1	274	0.0037	-13	c.-19 others(30): Show c.-19+3671_-19+3683delAAAAAAAAAAAAA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	3/32			chr17	TogoVar
HEPH_chrX_66159247_66272389	66206339	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02055.hp1 HG03130.hp1 HG01070.hp1 HG02055.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0118 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0001t0001g0118 a0001c0003t0001g0077 a0001c0003t0001g0080	3	218	0.0138	-13	c.229 others(30): Show c.2292-825_2292-813delTTTTTTTTTTTTT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63737503	TATCTTTT others(6): Show TATCTTTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG03486.hp1 HG00099.hp1 HG00639.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0002c0012 a0001c0011 a0002c0003 a0002c0012	a0001c0011t0001 a0002c0003t0002 a0002c0012t0001 a0001c0011t0001 a0002c0003t0002 a0002c0012t0001	a0001c0011t0001g0076 a0002c0003t0002g0017 a0002c0012t0001g0073 a0001c0011t0001g0076 a0002c0003t0002g0017 a0002c0012t0001g0073	3	216	0.0139	-13	c.252 others(32): Show c.2521-2667_2521-2655delCTGGAAAAAAGAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826784	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02615.hp1 others(7): Show HG02055.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0003g0107 others(7): Show a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0003g0107 a0001c0004t0003g0130 a0001c0004t0003g0140 a0001c0004t0003g0141 a0001c0004t0003g0176 a0001c0004t0003g0178 a0001c0004t0003g0179 a0001c0004t0003g0180	10	216	0.0463	-13	c.-27 others(30): Show c.-27+7030_-27+7042delTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63837862	TATACACC others(6): Show TATACACCCTTAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0183 a0001c0004t0001g0183	1	216	0.0046	-13	c.-40 others(24): Show c.-4075_-4063delGCTAAGGGTGTAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding		3915		chr15	TogoVar
HERC2_chr15_28106040_28327179	28119399	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp1 HG02976.hp2 NA19030.hp1	a0003 a0004 a0003 a0004	a0003c0059 a0004c0030 a0003c0059 a0004c0030	a0003c0059t0002 a0004c0030t0002 a0003c0059t0002 a0004c0030t0002	a0003c0059t0002g0016 a0004c0030t0002g0109 a0003c0059t0002g0016 a0004c0030t0002g0109	2	250	0.0080	-13	c.132 others(34): Show c.13272+1934_13272+1946delTTTTTTTTTTTTT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	86/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28206832	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18747.hp2 HG02976.hp2 NA18747.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0030 a0001c0001 a0004c0030	a0001c0001t0001 a0004c0030t0002 a0001c0001t0001 a0004c0030t0002	a0001c0001t0001g0154 a0004c0030t0002g0109 a0001c0001t0001g0154 a0004c0030t0002g0109	2	250	0.0080	-13	c.707 others(30): Show c.7070-463_7070-451delTTTTTTTTTTTTT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	44/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28284919	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0245 a0001c0013t0002g0245	1	250	0.0040	-13	c.323 others(30): Show c.323-4645_323-4633delTTTTTTTTTTTTT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	4/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28300823	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01884.hp1 HG01891.hp2 others(31): Show HG01257.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0010 a0030	a0001c0011 a0001c0022 a0001c0032 others(5): Show a0001c0011 a0001c0022 a0001c0032 a0003c0004 a0004c0006 a0008c0016 a0010c0019 a0030c0062	a0001c0011t0001 a0001c0022t0001 a0001c0032t0007 others(6): Show a0001c0011t0001 a0001c0022t0001 a0001c0032t0007 a0003c0004t0002 a0004c0006t0002 a0004c0006t0004 a0008c0016t0002 a0010c0019t0002 a0030c0062t0002	a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 others(31): Show a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 a0001c0022t0001g0201 a0001c0032t0007g0250 a0003c0004t0002g0003 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0020 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0023 a0003c0004t0002g0025 a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0029 a0003c0004t0002g0030 a0003c0004t0002g0034 a0003c0004t0002g0035 a0004c0006t0002g0191 a0004c0006t0002g0192 a0004c0006t0002g0193 a0004c0006t0002g0194 a0004c0006t0002g0195 a0004c0006t0002g0197 a0004c0006t0002g0199 a0004c0006t0004g0196 a0008c0016t0002g0028 a0010c0019t0002g0198 a0030c0062t0002g0014	34	250	0.1360	-13	c.73- others(28): Show c.73-1320_73-1308delTTTTTTTTTTTTT	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92			chr15	TogoVar
HERC3_chr4_88587480_88713539	88595841	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03579.hp2 HG00639.hp1 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0004 a0001c0007t0002 a0001c0007t0004	a0001c0007t0002g0122 a0001c0007t0004g0121 a0001c0007t0002g0122 a0001c0007t0004g0121	2	296	0.0068	-13	c.-30 others(28): Show c.-30+242_-30+254delTTTTTTTTTTTTT	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	67927413	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0197 a0001c0002t0005g0197	1	360	0.0028	-13	c.283 others(32): Show c.2839-2239_2839-2227delTATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927415	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0327 a0001c0002t0007g0327	1	360	0.0028	-13	c.283 others(32): Show c.2839-2241_2839-2229delTATATATATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67927418	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	360	0.0028	-13	c.283 others(32): Show c.2839-2244_2839-2232delATATATATATATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67958372	CTTTGGCT others(6): Show CTTTGGCTTCAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp1 others(9): Show HG00140.hp1 HG00735.hp1 HG01069.hp1 HG01346.hp2 HG01515.hp2 HG02698.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 others(9): Show a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0339 a0001c0009t0001g0306	12	360	0.0333	-13	c.192 others(32): Show c.1927-1409_1927-1397delTTTTGAAGCCAAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	16/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	67972529	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0150 a0003c0012t0001g0150	1	360	0.0028	-13	c.180 others(32): Show c.1807-5740_1807-5728delTTTTTTTTTTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	15/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059828	TATTATAT others(6): Show TATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp1 HG02602.hp1 others(4): Show HG01975.hp1 HG02257.hp1 HG02602.hp1 HG02738.hp1 NA18941.hp2 NA18963.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0126 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155	7	360	0.0194	-13	c.226 others(32): Show c.226+13042_226+13054delTATAATATATAAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68061879	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0346 a0001c0003t0003g0346	1	360	0.0028	-13	c.226 others(32): Show c.226+10991_226+11003delTTTTTTTTTTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35686733	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	392	0.0026	-13	c.147 others(30): Show c.147+7438_147+7450delGTTTTTTTTTTTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HEXA_chr15_72335924_72381014	72359693	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	354	0.0028	-13	c.254 others(30): Show c.254-3089_254-3077delTTTTTTTTTTTTT	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding	1/13			chr15	TogoVar
HEXB_chr5_74680233_74726288	74690649	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG02074.hp1 others(4): Show HG00642.hp1 HG00673.hp2 HG02074.hp1 HG02896.hp2 HG04199.hp2 HG04228.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0006c0007t0001g0057	7	396	0.0177	-13	c.445 others(30): Show c.445+1214_445+1226delAAAAAAAAAAAAA	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXB_chr5_74680233_74726288	74700001	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	396	0.0025	-13	c.669 others(30): Show c.669+2908_669+2920delTTTTTTTTTTTTT	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXD_chr17_82413347_82447645	82433109	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	400	0.0025	-13	c.283 others(28): Show c.283-548_283-536delATATATATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12			chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02451.hp2 others(3): Show HG01496.hp1 HG02055.hp1 HG02451.hp2 HG02723.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0007 a0001c0013t0002 a0001c0001t0001 a0001c0001t0007 a0001c0013t0002	a0001c0001t0001g0058 a0001c0001t0001g0210 a0001c0001t0001g0252 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0210 a0001c0001t0001g0252 a0001c0001t0001g0322 a0001c0001t0007g0067 a0001c0013t0002g0027	6	400	0.0150	-13	c.283 others(28): Show c.283-526_283-514delTTTTTTTTTTTTT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82436027	GCCTGAGT others(6): Show GCCTGAGTCGTTTC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	400	0.0025	-13	c.631 others(28): Show c.631+159_631+171delGAGTCGTTTCCCT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXIM1_chr17_45143475_45157099	45153661	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	442	0.0023	-13	c.33 others(24): Show c.3392_*3404delTTTTTTTTTTTTT	HEXIM1	ENSG00000186834.4	transcript	ENST00000332499.4	protein_coding		1563		chr17	TogoVar
HFE_chr6_26082429_26103343	26101655	CATATATA others(6): Show CATATATAGGTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	402	0.0025	-13	c.74 others(24): Show c.7430_*7442delATATATAGGTGCA	HFE	ENSG00000010704.19	transcript	ENST00000357618.10	protein_coding		3313		chr6	TogoVar
HFM1_chr1_91255766_91409837	91264361	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG04115.hp2 HG04228.hp1 HG00280.hp2 HG04115.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0018 a0003c0009 a0001c0001 a0001c0018 a0003c0009	a0001c0001t0001 a0001c0018t0001 a0003c0009t0001 a0001c0001t0001 a0001c0018t0001 a0003c0009t0001	a0001c0001t0001g0200 a0001c0018t0001g0133 a0003c0009t0001g0346 a0001c0001t0001g0200 a0001c0018t0001g0133 a0003c0009t0001g0346	3	362	0.0083	-13	c.397 others(32): Show c.3974+1643_3974+1655delAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HGSNAT_chr8_43135464_43207855	43180679	CTTCCCAG others(6): Show CTTCCCAGACGGGG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0170 a0001c0001t0012g0170	1	234	0.0043	-13	c.101 others(32): Show c.1013-1464_1013-1452delTCCCAGACGGGGT	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGS_chr17_81679011_81707121	81688562	ACGCCCCA others(6): Show ACGCCCCACTCGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0092 a0001c0003t0004g0092	1	414	0.0024	-13	c.292 others(28): Show c.292-141_292-129delCGCCCCACTCGGG	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	4/21			chr17	TogoVar
HHAT_chr1_210323902_210681290	210451087	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02809.hp1 others(1): Show HG01884.hp1 HG02258.hp1 HG02809.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0082 a0001c0001t0001g0180 a0001c0001t0002g0075 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0180 a0001c0001t0002g0075 a0001c0001t0007g0074	4	268	0.0149	-13	c.857 others(32): Show c.857-13409_857-13397delAAAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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